Linked Data
ClinVar Variation Id:
157592
ClinVar RCV Id:
RCV000144920
dbSNP Id:
rs1979277
ExAC:
17:18232096 G / A
gnomAD v2:
17-18232096-G-A
gnomAD v3:
17-18328782-G-A
gnomAD v4:
17-18328782-G-A
PubMed:
PMID:25227144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18328782G>A , CM000679.2:g.18328782G>A | GRCh38 |
| NC_000017.10:g.18232096G>A , CM000679.1:g.18232096G>A | GRCh37 |
| NC_000017.9:g.18172821G>A | NCBI36 |
| NG_017111.1:g.39761C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000583780.2:c.1420C>T | ENSP00000462041.2:p.Leu474Phe | |
| ENST00000316694.8:c.1420C>T MANE Select | ENSP00000318868.3:p.Leu474Phe | |
| ENST00000316694.7:c.1420C>T | ENSP00000318868.3:p.Leu474Phe | |
| ENST00000352886.10:c.1006C>T | ENSP00000345881.7:p.Leu336Phe | |
| ENST00000354098.7:c.1303C>T | ENSP00000318805.3:p.Leu435Phe | |
| ENST00000395684.5:n.1743C>T | ||
| ENST00000580002.5:c.*917C>T | ENSP00000462043.1:n.*917C>T | |
| NM_001281786.1:c.1006C>T | NP_001268715.1:p.Leu336Phe | |
| NM_004169.4:c.1420C>T | NP_004160.3:p.Leu474Phe | |
| NM_148918.2:c.1303C>T | NP_683718.1:p.Leu435Phe | |
| XM_005256767.2:c.1420C>T | XP_005256824.1:p.Leu474Phe | |
| XM_011523992.1:c.1180C>T | XP_011522294.1:p.Leu394Phe | |
| XM_005256767.3:c.1420C>T | XP_005256824.1:p.Leu474Phe | |
| XM_011523992.3:c.1180C>T | XP_011522294.1:p.Leu394Phe | |
| XM_017024957.1:c.1420C>T | XP_016880446.1:p.Leu474Phe | |
| XM_017024958.1:c.1303C>T | XP_016880447.1:p.Leu435Phe | |
| XM_024450887.1:c.1180C>T | XP_024306655.1:p.Leu394Phe | |
| XM_024450888.1:c.1006C>T | XP_024306656.1:p.Leu336Phe | |
| XM_024450889.1:c.889C>T | XP_024306657.1:p.Leu297Phe | |
| XM_024450890.1:c.766C>T | XP_024306658.1:p.Leu256Phe | |
| NM_004169.5:c.1420C>T MANE Select | NP_004160.3:p.Leu474Phe | |
| NM_001281786.2:c.1006C>T | NP_001268715.1:p.Leu336Phe | |
| NM_148918.3:c.1303C>T | NP_683718.1:p.Leu435Phe |